A2T (p.Ala2Thr) variant of AIRE (Autoimmune regulator)
A2T (p.Ala2Thr) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 21-44286010-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.16
- MetaLR 0.56
- MetaSVM -0.31
- CADD 11.50
- PolyPhen-2 0.12
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available